Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease

Ex Vivoandin VivoEffects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

(2011) Ying Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

(2010) Olle Nilsson et al.   CLINICAL GENETICS

Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between Type I and Type III

(2010) Olle Nilsson et al.   CLINICAL GENETICS

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Absence of oligodendroglial glucosylceramide synthesis does not result in CNS myelin abnormalities or alter the dysmyelinating phenotype of CGT-deficient mice

(2009) Laleh Saadat et al.   GLIA

Specific saposin C deficiency: CNS impairment and acid  -glucosidase effects in the mouse

(2009) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION